rs104893833
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_000730.3(CCKAR):c.61G>C(p.Gly21Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000263 in 1,613,702 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000730.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCKAR | NM_000730.3 | c.61G>C | p.Gly21Arg | missense_variant | 1/5 | ENST00000295589.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCKAR | ENST00000295589.4 | c.61G>C | p.Gly21Arg | missense_variant | 1/5 | 1 | NM_000730.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00134 AC: 203AN: 151820Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000314 AC: 79AN: 251406Hom.: 0 AF XY: 0.000280 AC XY: 38AN XY: 135882
GnomAD4 exome AF: 0.000153 AC: 223AN: 1461764Hom.: 0 Cov.: 30 AF XY: 0.000127 AC XY: 92AN XY: 727180
GnomAD4 genome ? AF: 0.00133 AC: 202AN: 151938Hom.: 0 Cov.: 31 AF XY: 0.00133 AC XY: 99AN XY: 74212
ClinVar
Submissions by phenotype
CHOLECYSTOKININ A RECEPTOR POLYMORPHISM Benign:1
Benign, no assertion criteria provided | literature only | OMIM | Apr 01, 1999 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at